Variant report

Variant	rs9472661
Chromosome Location	chr6:45982071-45982072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:45981962-45982732	U2OS	brain:	n/a	n/a
2	ZNF263	chr6:45981948-45983628	HEK293-T-REx	kidney:	n/a	chr6:45982829-45982838 chr6:45983486-45983495 chr6:45982539-45982560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45980539..45983062-chr6:45983993..45986730,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP5-1	chr6:45982020-45982451	NONHSAT113001

Variant related genes	Relation type
RNU6-754P	TF binding region
ENSG00000212468	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13328271	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1578005	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2179993	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59238881	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6906803	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6919720	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921481	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927513	0.82[AMR][1000 genomes]
rs6936849	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73464404	0.82[AMR][1000 genomes]
rs7771759	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9463170	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9472662	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9472666	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45979200-45984000	Active TSS	Right Atrium	heart
2	chr6:45979400-45982200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:45979400-45982200	Weak transcription	Spleen	Spleen
4	chr6:45979600-45982200	Enhancers	Primary T cells from cord blood	blood
5	chr6:45979600-45982400	Enhancers	Hela-S3	cervix
6	chr6:45979800-45982200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:45980200-45982200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:45980200-45983800	Active TSS	Fetal Kidney	kidney
9	chr6:45980600-45982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:45980800-45982200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:45980800-45983800	Active TSS	Small Intestine	intestine
12	chr6:45980800-45984000	Active TSS	Left Ventricle	heart
13	chr6:45981000-45982200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:45981000-45982200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr6:45981200-45982600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:45981200-45984000	Active TSS	Right Ventricle	heart
17	chr6:45981400-45982200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:45981400-45982200	Enhancers	Fetal Intestine Large	intestine
19	chr6:45981400-45982600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:45981400-45982800	Active TSS	Colonic Mucosa	Colon
21	chr6:45981600-45982200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:45981600-45982200	Active TSS	Adipose Nuclei	Adipose
23	chr6:45981600-45982200	Genic enhancers	Fetal Intestine Small	intestine
24	chr6:45981600-45982200	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr6:45981600-45982400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:45981600-45982400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:45981600-45982400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr6:45981600-45982600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr6:45981600-45982600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr6:45981600-45982600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:45981600-45982800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:45981600-45982800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:45981600-45982800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:45981600-45983000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:45981800-45982200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:45981800-45982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:45981800-45982200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:45981800-45982200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:45981800-45982200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:45981800-45982400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:45981800-45982800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:45981800-45983800	Active TSS	Lung	lung
43	chr6:45981800-45983800	Active TSS	Psoas Muscle	Psoas
44	chr6:45981800-45984600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr6:45982000-45982200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
46	chr6:45982000-45982200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:45982000-45982200	Enhancers	Primary hematopoietic stem cells	blood
48	chr6:45982000-45982200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:45982000-45982200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
50	chr6:45982000-45982200	Bivalent/Poised TSS	Placenta	Placenta

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